Incidental Mutation 'IGL01508:Ffar2'
| ID |
89105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ffar2
|
| Ensembl Gene |
ENSMUSG00000051314 |
| Gene Name |
free fatty acid receptor 2 |
| Synonyms |
Gpr43 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01508
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
30517778-30523200 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30518601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 313
(D313G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053156]
[ENSMUST00000163504]
[ENSMUST00000168528]
[ENSMUST00000186059]
[ENSMUST00000186339]
[ENSMUST00000186534]
|
| AlphaFold |
Q8VCK6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053156
AA Change: D313G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000052600
Gene: ENSMUSG00000051314
AA Change: D313G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.1e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
273 |
1.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163504
AA Change: D313G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127758
Gene: ENSMUSG00000051314
AA Change: D313G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.2e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
277 |
1.2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168528
AA Change: D313G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000129398
Gene: ENSMUSG00000051314
AA Change: D313G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
10 |
284 |
3.1e-8 |
PFAM |
|
Pfam:7tm_1
|
24 |
273 |
1.7e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186059
|
| SMART Domains |
Protein: ENSMUSP00000140484
Gene: ENSMUSG00000051314
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
133 |
1.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186339
|
| SMART Domains |
Protein: ENSMUSP00000140493
Gene: ENSMUSG00000051314
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
8 |
175 |
1.9e-4 |
PFAM |
|
Pfam:7tm_1
|
24 |
179 |
1.4e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186534
|
| SMART Domains |
Protein: ENSMUSP00000140215
Gene: ENSMUSG00000051314
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
142 |
1.5e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GP40 family of G protein-coupled receptors that are clustered together on chromosome 19. The encoded protein is a receptor for short chain free fatty acids and may be involved in the inflammatory response and in regulating lipid plasma levels. [provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a null allele show altered granulocyte and neutrophil physiology and increased inflammation in models of induced colitis, arthritis and asthma, whereas homozygotes for a different null allele show reduced neutrophil recruitment and decreased susceptibility to induced colitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
T |
6: 121,636,326 (GRCm39) |
R732* |
probably null |
Het |
| Adarb2 |
C |
A |
13: 8,802,606 (GRCm39) |
|
probably null |
Het |
| Alb |
C |
T |
5: 90,618,697 (GRCm39) |
A430V |
probably benign |
Het |
| Cdhr3 |
A |
T |
12: 33,103,427 (GRCm39) |
F397I |
possibly damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,535 (GRCm39) |
S1518P |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,890,804 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,604,365 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,666,231 (GRCm39) |
S599G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,929,884 (GRCm39) |
P369L |
possibly damaging |
Het |
| Fbxo3 |
A |
T |
2: 103,864,021 (GRCm39) |
H92L |
probably benign |
Het |
| Fnta |
T |
C |
8: 26,497,294 (GRCm39) |
E185G |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,078,243 (GRCm39) |
T69I |
possibly damaging |
Het |
| Gimap7 |
A |
T |
6: 48,701,230 (GRCm39) |
N272I |
probably damaging |
Het |
| Gin1 |
T |
C |
1: 97,705,162 (GRCm39) |
V84A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,613 (GRCm39) |
L369P |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,743,990 (GRCm39) |
T891I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,116,356 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
T |
C |
2: 181,338,830 (GRCm39) |
T169A |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,953,309 (GRCm39) |
V1017A |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,391,760 (GRCm39) |
|
probably benign |
Het |
| Osr1 |
A |
G |
12: 9,629,370 (GRCm39) |
D81G |
probably damaging |
Het |
| Pate4 |
A |
T |
9: 35,519,602 (GRCm39) |
C29* |
probably null |
Het |
| Prkce |
C |
T |
17: 86,937,513 (GRCm39) |
R649C |
probably damaging |
Het |
| Ptpn5 |
A |
G |
7: 46,741,303 (GRCm39) |
V14A |
probably benign |
Het |
| Rnf166 |
C |
A |
8: 123,197,081 (GRCm39) |
C57F |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,729,680 (GRCm39) |
I1426T |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,773,894 (GRCm39) |
Q424* |
probably null |
Het |
| Ttc27 |
T |
A |
17: 75,142,352 (GRCm39) |
S606T |
probably damaging |
Het |
| Tyrp1 |
T |
C |
4: 80,759,002 (GRCm39) |
S292P |
possibly damaging |
Het |
| Wdr70 |
A |
G |
15: 8,108,747 (GRCm39) |
V133A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,062,229 (GRCm39) |
F252S |
possibly damaging |
Het |
|
| Other mutations in Ffar2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01655:Ffar2
|
APN |
7 |
30,519,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Ffar2
|
UTSW |
7 |
30,518,839 (GRCm39) |
splice site |
probably null |
|
|
R3826:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3827:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3828:Ffar2
|
UTSW |
7 |
30,519,510 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4156:Ffar2
|
UTSW |
7 |
30,519,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6377:Ffar2
|
UTSW |
7 |
30,518,971 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6987:Ffar2
|
UTSW |
7 |
30,519,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7270:Ffar2
|
UTSW |
7 |
30,518,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7374:Ffar2
|
UTSW |
7 |
30,519,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7616:Ffar2
|
UTSW |
7 |
30,519,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7784:Ffar2
|
UTSW |
7 |
30,518,683 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8494:Ffar2
|
UTSW |
7 |
30,519,164 (GRCm39) |
nonsense |
probably null |
|
|
R9117:Ffar2
|
UTSW |
7 |
30,518,616 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9371:Ffar2
|
UTSW |
7 |
30,518,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9566:Ffar2
|
UTSW |
7 |
30,518,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation